Pediatric neuromuscular disorders

What are pediatric neuromuscular disorders?

Children with neuromuscular diseases have problems with the nerves and muscles that affect how their muscles work. They may affect the nerves that control different kinds of muscles, the muscles themselves or the way that the nerves and muscles communicate with each other. Some of these conditions are inherited (passed from parent to child), but others have other causes. These disorders typically cause muscle weakness. Usually, the symptoms slowly get worse over time.

What are the different types of pediatric neuromuscular disorders?

There are many different types of neuromuscular disorders including:

• Congenital muscular dystrophy is a group genetic disorder that causes muscles to get weaker and weaker over time.
• Congenital myopathies are genetic diseases that cause muscle weakness that can be mild to severe.
• Friedreich’s ataxia causes problems with the nervous system and movement.
• Limb-girdle muscular dystrophies are rare disorders with muscle-wasting (weakening, shirking and loss of muscles) in the hips and shoulders.
• Myotonic dystrophy begins in adulthood and can be seen as a congenital, childhood or adult form.
• Neuromuscular junction disorders affect the area where nerves connect to muscles. Myasthenia gravis, botulism and congenital myasthenic syndrome are neuromuscular junction disorders.
• Neuropathies are problems with the nerves that can cause numbness, tingling, pain and other symptoms. Acquired neuropathies include Guillain-Barre syndrome, chronic inflammatory demyelinating polyneuropathy, diabetic neuropathy and toxic neuropathies. Hereditary neuropathies include Charcot-Marie-Tooth disease (CMT).
• Spinal muscular atrophy (SMA) makes it hard for a child to control their muscle movement. The main problem is in the motor nerve cells located in the spine.

What are the signs and symptoms of pediatric neuromuscular disorders?

Signs and symptoms are different for different types of neuromuscular conditions, but they often include:

• Muscle weakness in the arms and legs
• Loss of reflexes
• Twitching, cramps, numbness or aches and pains
• Decreased muscle size and lack of muscle tone
• Decreased sensation (tingling, numbness)
• Problems with movement, loss of balance and the ability to walk
• Droopy eyelids
• Double vision
• Trouble swallowing
• Trouble breathing

How are pediatric neuromuscular disorders diagnosed?

Doctors typically start by getting a medical history and conducting a physical exam to evaluate your child’s reflexes and muscle strength.

Other tests to evaluate your child may include:

• A blood test to check for high levels of muscle enzymes
• Nerve conduction studies to test the ability of nerves to conduct electricity to muscles
• An electromyography (EMG) to examine the health of a muscle. During an EMG, a small needle is inserted in the muscle.
• A nerve conduction study (NCS) - During an NCS, electrodes are placed on the surface of your child’s skin to measure the speed and strength of nerve pulses traveling through the body. These signals are translated into graphs, sounds or numerical values that are then interpreted by one of our specialists.
• Genetic testing to confirm gene mutations
• A muscle or nerve biopsy in which a clinician makes a small incision and removes tissue to examine under a microscope
• Magnetic resonance imaging (MRI) of the brain and spinal cord
• A spinal tap to check cerebrospinal fluid

What causes pediatric neuromuscular disorders?

These conditions have a range of causes. Some are inherited, while others are not. Some may be caused by other diseases, or they may be due to an autoimmune reaction where the body’s immune system attacks itself. Some are caused by injuries, including injuries at birth.

How are pediatric neuromuscular disorders treated?

Based on the specific condition that your child has, we make a treatment plan so that they can see all the specialists they need.

We also coordinate the care, including for:

• Multidisciplinary care, that includes a neurologist and other specialists such as a cardiologist and pulmonologist
• Physical therapy, to help them work on strength and flexibility
• Occupational therapy, to help with doing daily activities
• Speech therapy, to work on language and feeding
• Nutritional assessments
• Social work support
• Case manager support
• Medications